SNP Links for Protein (Select 42794618) - SNP

Links from Protein

Items: 1 to 20 of 273

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Select item 14865020621.

rs1486502062 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:205083569 (GRCh38)
1:205052697 (GRCh37)
Canonical SPDI:: NC_000001.11:205083568:C:A,NC_000001.11:205083568:C:T
Gene:: TMEM81 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.205083569C>A, NC_000001.11:g.205083569C>T, NC_000001.10:g.205052697C>A, NC_000001.10:g.205052697C>T, NM_203376.2:c.752G>T, NM_203376.2:c.752G>A, NM_203376.1:c.752G>T, NM_203376.1:c.752G>A, NP_976310.1:p.Gly251Val, NP_976310.1:p.Gly251Glu

Select item 14822819952.

rs1482281995 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:205084094 (GRCh38)
1:205053222 (GRCh37)
Canonical SPDI:: NC_000001.11:205084093:G:A,NC_000001.11:205084093:G:C
Gene:: TMEM81 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.205084094G>A, NC_000001.11:g.205084094G>C, NC_000001.10:g.205053222G>A, NC_000001.10:g.205053222G>C, NM_203376.2:c.227C>T, NM_203376.2:c.227C>G, NM_203376.1:c.227C>T, NM_203376.1:c.227C>G, NP_976310.1:p.Thr76Ile, NP_976310.1:p.Thr76Ser

Select item 14801810583.

rs1480181058 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 1:205083722 (GRCh38)
1:205052850 (GRCh37)
Canonical SPDI:: NC_000001.11:205083721:AA:A
Gene:: TMEM81 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.205083723del, NC_000001.10:g.205052851del, NM_203376.2:c.599del, NM_203376.1:c.599del, NP_976310.1:p.Lys199_Leu200insTer

Select item 14779127674.

rs1477912767 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:205083885 (GRCh38)
1:205053013 (GRCh37)
Canonical SPDI:: NC_000001.11:205083884:T:C
Gene:: TMEM81 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.205083885T>C, NC_000001.10:g.205053013T>C, NM_203376.2:c.436A>G, NM_203376.1:c.436A>G, NP_976310.1:p.Lys146Glu

Select item 14719242765.

rs1471924276 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:205084011 (GRCh38)
1:205053139 (GRCh37)
Canonical SPDI:: NC_000001.11:205084010:A:G
Gene:: TMEM81 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.205084011A>G, NC_000001.10:g.205053139A>G, NM_203376.2:c.310T>C, NM_203376.1:c.310T>C, NP_976310.1:p.Cys104Arg

Select item 14668986946.

rs1466898694 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:205083628 (GRCh38)
1:205052756 (GRCh37)
Canonical SPDI:: NC_000001.11:205083627:T:C
Gene:: TMEM81 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.205083628T>C, NC_000001.10:g.205052756T>C, NM_203376.2:c.693A>G, NM_203376.1:c.693A>G

Select item 14644384867.

rs1464438486 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:205084216 (GRCh38)
1:205053344 (GRCh37)
Canonical SPDI:: NC_000001.11:205084215:C:A
Gene:: TMEM81 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.205084216C>A, NC_000001.10:g.205053344C>A, NM_203376.2:c.105G>T, NM_203376.1:c.105G>T

Select item 14578075548.

rs1457807554 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:205084307 (GRCh38)
1:205053435 (GRCh37)
Canonical SPDI:: NC_000001.11:205084306:G:A
Gene:: TMEM81 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.205084307G>A, NC_000001.10:g.205053435G>A, NM_203376.2:c.14C>T, NM_203376.1:c.14C>T, NP_976310.1:p.Ala5Val

Select item 14530865599.

rs1453086559 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:205083894 (GRCh38)
1:205053022 (GRCh37)
Canonical SPDI:: NC_000001.11:205083893:G:A
Gene:: TMEM81 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.205083894G>A, NC_000001.10:g.205053022G>A, NM_203376.2:c.427C>T, NM_203376.1:c.427C>T, NP_976310.1:p.His143Tyr

Select item 144708179210.

rs1447081792 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:205084203 (GRCh38)
1:205053331 (GRCh37)
Canonical SPDI:: NC_000001.11:205084202:C:T
Gene:: TMEM81 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000111/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.205084203C>T, NC_000001.10:g.205053331C>T, NM_203376.2:c.118G>A, NM_203376.1:c.118G>A, NP_976310.1:p.Gly40Arg

Select item 144321700511.

rs1443217005 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:205083596 (GRCh38)
1:205052724 (GRCh37)
Canonical SPDI:: NC_000001.11:205083595:A:G
Gene:: TMEM81 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.205083596A>G, NC_000001.10:g.205052724A>G, NM_203376.2:c.725T>C, NM_203376.1:c.725T>C, NP_976310.1:p.Val242Ala

Select item 144191788512.

rs1441917885 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:205084168 (GRCh38)
1:205053296 (GRCh37)
Canonical SPDI:: NC_000001.11:205084167:G:A
Gene:: TMEM81 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.205084168G>A, NC_000001.10:g.205053296G>A, NM_203376.2:c.153C>T, NM_203376.1:c.153C>T

Select item 143990565313.

rs1439905653 [Homo sapiens]

Variant type:: DELINS
Alleles:: AGACAGCTAAGCTCAAATTC>- [Show Flanks]
Chromosome:: 1:205084007 (GRCh38)
1:205053135 (GRCh37)
Canonical SPDI:: NC_000001.11:205084004:TCAGACAGCTAAGCTCAAATTC:TC
Gene:: TMEM81 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000001.11:g.205084007_205084026del, NC_000001.10:g.205053135_205053154del, NM_203376.2:c.297_316del, NM_203376.1:c.297_316del, NP_976310.1:p.Glu101fs

Select item 143598498914.

rs1435984989 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:205084231 (GRCh38)
1:205053359 (GRCh37)
Canonical SPDI:: NC_000001.11:205084230:G:A
Gene:: TMEM81 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.205084231G>A, NC_000001.10:g.205053359G>A, NM_203376.2:c.90C>T, NM_203376.1:c.90C>T

Select item 143574842015.

rs1435748420 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:205083833 (GRCh38)
1:205052961 (GRCh37)
Canonical SPDI:: NC_000001.11:205083832:T:C
Gene:: TMEM81 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.205083833T>C, NC_000001.10:g.205052961T>C, NM_203376.2:c.488A>G, NM_203376.1:c.488A>G, NP_976310.1:p.Gln163Arg

Select item 143268124616.

rs1432681246 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:205084224 (GRCh38)
1:205053352 (GRCh37)
Canonical SPDI:: NC_000001.11:205084223:C:A
Gene:: TMEM81 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.205084224C>A, NC_000001.10:g.205053352C>A, NM_203376.2:c.97G>T, NM_203376.1:c.97G>T, NP_976310.1:p.Glu33Ter

Select item 143225368517.

rs1432253685 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 1:205083842 (GRCh38)
1:205052970 (GRCh37)
Canonical SPDI:: NC_000001.11:205083841:C:A,NC_000001.11:205083841:C:G
Gene:: TMEM81 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.205083842C>A, NC_000001.11:g.205083842C>G, NC_000001.10:g.205052970C>A, NC_000001.10:g.205052970C>G, NM_203376.2:c.479G>T, NM_203376.2:c.479G>C, NM_203376.1:c.479G>T, NM_203376.1:c.479G>C, NP_976310.1:p.Cys160Phe, NP_976310.1:p.Cys160Ser

Select item 143170422418.

rs1431704224 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:205084074 (GRCh38)
1:205053202 (GRCh37)
Canonical SPDI:: NC_000001.11:205084073:T:G
Gene:: TMEM81 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.205084074T>G, NC_000001.10:g.205053202T>G, NM_203376.2:c.247A>C, NM_203376.1:c.247A>C, NP_976310.1:p.Thr83Pro

Select item 142290466419.

rs1422904664 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:205083774 (GRCh38)
1:205052902 (GRCh37)
Canonical SPDI:: NC_000001.11:205083773:G:A
Gene:: TMEM81 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000056/2 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.205083774G>A, NC_000001.10:g.205052902G>A, NM_203376.2:c.547C>T, NM_203376.1:c.547C>T, NP_976310.1:p.Pro183Ser

Select item 141787073120.

rs1417870731 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:205084014 (GRCh38)
1:205053142 (GRCh37)
Canonical SPDI:: NC_000001.11:205084013:T:C
Gene:: TMEM81 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.205084014T>C, NC_000001.10:g.205053142T>C, NM_203376.2:c.307A>G, NM_203376.1:c.307A>G, NP_976310.1:p.Ser103Gly

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